Children's Hospital and Research Center Oakland, Oakland, California 94609, USA.
Pediatr Blood Cancer. 2010 Feb;54(2):332-5. doi: 10.1002/pbc.22167.
Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state. While most such patients have thalassemia intermedia, we describe a young Guatemalan child with a de novo mutation in the beta globin gene, codon 31 T --> G (Hemoglobin Hakkari), who developed severe anemia at the age of 10 months and remains transfusion-dependent. The substitution of B13 leucine with arginine in the beta globin results in alteration of a critical heme contact point resulting in an extremely unstable variant hemoglobin and a clinical picture that is characterized by ineffective erythropoiesis and numerous intracytoplasmic inclusions within the erythrocyte precursors of the bone marrow. .
某些β珠蛋白基因突变在杂合状态下可产生重型β地中海贫血表型。大多数此类患者为中间型β地中海贫血，我们描述了一位来自危地马拉的年轻患儿，其β珠蛋白基因发生了新的突变，密码子 31 T-->G（血红蛋白哈卡里），他在 10 个月大时出现严重贫血，目前仍依赖输血。β珠蛋白第 13 位亮氨酸被精氨酸取代，导致一个关键的血红素接触点发生改变，从而产生一种极不稳定的变异血红蛋白，其临床表现为无效造血和骨髓中红细胞前体细胞内有大量的细胞内包涵体。
